A genome-wide analysis of admixture in Uyghurs and a high-density admixture map for disease-gene discovery
A genome-wide analysis of admixture in Uyghurs and a high-density admixture map for disease-gene discovery
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DOI：
10.1016/j.ajhg.2008.08.001
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发表时间：
2008-09-12
影响因子：
9.8
通讯作者：
Jin, Li
中科院分区：
文献类型：
--
作者：
Xu, Shuhua;Jin, Li
在之前研究的基础上，我们对分别来自中国新疆北部和南部地区的两个维吾尔族人群样本（HGDP-UG和PanAsia-UG）进行了全基因组的混合分析。HGDP-UG和PanAsia-UG均显示东亚（EAS）和欧洲（EUR）祖先的大量混合，经验估计HGDP-UG和PanAsia-UG的祖先贡献分别为53:47 （EAS:EUR）和48:52。单脉冲混合模型下的有效混合时间估计为110代和129代，即HGDP-UG和PanAsia-UG的混合事件分别发生在2200年和2580年左右，假设平均每代20年。尽管维吾尔族的历史比其他混合人口更早，但混合测绘为这一人口带来了希望，因为它的规模很大，而且来自不同大陆的祖先混合在一起。我们筛选了多个数据库，并确定了一个全基因组单核苷酸多态性面板，可以区分维吾尔人染色体片段的EAS和FUR祖先。该面板包含8150个祖先信息标记（AIMs），显示EAS和FUR群体之间的频率差异很大（F-ST > 0.25，平均F-ST = 0.43），但两个群体之间的频率差异很小（7999个AIMs验证）（F-ST < 0.05，平均F-ST < 0.01）。我们评估了这种混合图谱在两个维吾尔族人群中定位疾病基因的有效性。据我们所知，我们的图谱构成了维吾尔族混合图谱的第一个实用资源，它将使研究显示FUR和EAS人群之间遗传风险差异的疾病成为可能。
Following up on our previous study, we conducted a genome-wide analysis of admixture for two Uyghur population samples (HGDP-UG and PanAsia-UG), collected from the northern and southern regions of Xinjiang in China, respectively. Both HGDP-UG and PanAsia-UG showed a substantial admixture of East-Asian (EAS) and European (EUR) ancestries, with an empirical estimation of ancestry contribution of 53:47 (EAS:EUR) and 48:52 for HGDP-UG and PanAsia-UG, respectively. The effective admixture time under a model with a single pulse of admixture was estimated as 110 generations and 129 generations, or admixture events occurred about 2200 and 2580 years ago for HGDP-UG and PanAsia-UG, respectively, assuming an average of 20 yr per generation. Despite Uyghurs' earlier history compared to other admixture populations, admixture mapping, holds promise for this population, because of its large size and its mixture of ancestry from different continents. We screened multiple databases and identified a genome-wide single-nucleotide polymorphism panel that can distinguish EAS and FUR ancestry of chromosomal segments in Uyghurs. The panel contains 8150 ancestry-informative markers (AIMs) showing large frequency differences between EAS and FUR populations (F-ST > 0.25, mean F-ST = 0.43) but small frequency differences (7999 AIMs validated) within both populations (F-ST < 0.05, mean F-ST < 0.01). We evaluated the effectiveness of this admixture map for localizing disease genes in two Uyghur populations. To our knowledge, our map constitutes the first practical resource for admixture mapping in Uyghurs, and it will enable studies of diseases showing differences in genetic risk between FUR and EAS populations.